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<p><b>OBJECTIVE</b>To study the mutation characteristics of the phenylalanine hydroxylase (PAH) gene in children with phenylketonuria (PKU) from the Qinghai area of China, in order to provide basic information for genetic counseling and prenatal diagnosis.</p><p><b>METHODS</b>Mutations of the PAH gene were detected in the promoter and exons 1-13 and their flanking intronic sequences of PAH gene by PCR and DNA sequencing in 49 children with PKU and their parents from the Qinghai area of China.</p><p><b>RESULTS</b>A total of 30 different mutations were detected in 80 out of 98 mutant alleles (82%), including 19 missense (63%), 5 nonsense (17%), 3 splice-site (10%) and 3 deletions (10%). Most mutations were detected in exons 3, 6, 7, 11 and intron 4 of PAH gene. The most frequent mutations were p.R243Q (19%), IVS4-1G>A (9%), p.Y356X (7%) and p.EX6-96A>G(5%). Two novel mutations p.N93fsX5 (c.279-282delCATC) and p.G171E (c.512G>A) were found. p.H64fsX9(c.190delC) was documented for the second time in Chinese PAH gene. The mutation spectrum of the gene PAH in the Qinghai population was similar to that in other populations in North China while significantly different from that in the populations from some provinces in southern China, Japan and Europe.</p><p><b>CONCLUSIONS</b>The mutations of PAH gene in the Qinghai area of China demonstrate a unique diversity, complexity and specificity.</p>
Subject(s)
Child , Child, Preschool , Female , Humans , Infant , Male , China , Mutation , Phenylalanine Hydroxylase , Genetics , Phenylketonurias , GeneticsABSTRACT
The continuous expanding of targets is a distinct character of systematic evolution of ligands by exponential enrichment (SELEX) technique and other random library technologys (such as phage display technology). Over the past 20 years the targets of SELEX have expanded to various metal ions, organic molecules, drugs, proteins and biomacromolecules, pathogenic bacteria, live cells and tissue slide. The SELEX screenings using live cells and tissue slide as targets have been preliminarHy applied for studying targeted diagnosis and treatment of cancers. This paper reviews the expansion of the targets of SELEX technique.
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Objective: To observe the expression of Toll-interacting protein (Tollip) in appendix and analyze its significance during acute inflammation. Methods: Thirty-three patients with acute appendicitis were included in the present study and 6 subjects with non-inflammatory appendixes were taken as controls (without inflammatory changes). The pulse rate, body temperature (BT), white blood cell (WBC) count and neutrophil (NEUT) count were observed one hour before appendectomy. Based on H-E staining and pathological examination, the appendix samples were divided into four groups : non-inflammatory appendix (A), simple appendicitis (B), suppurative appendicitis (C) and gangrenous appendicitis (D). The expression of Tollip protein (the localization, qualitative and semiquantitative analysis) was analyzed using immunohistochemistry and digital image analysis. The correlation of Tollip with pusle rate, BT, WBC and NEUT was also analyzed. Results: Significant differences in BT, WBC and NEUT were found between different pathological groups (P<0. 05). Tollip protein was mainly expressed in the epithelium mucosa and glandular epithelium of appendix, but was not detected in the neutrophils. During the development of appendiceal inflammation (non-inflammatory appendix to simple appendicitis, to suppurative appendicitis, then to gangrenous appendicitis), the expression of Tollip protein gradually increased and was significantly correlated with WBC (P<0. 05). Conclusion: During the development and progression of acute appendicitis, Tollip expression is up-regulated in appendix tissues and is closely correlated with systemic responses of inflammation, such as the increase of WBC.
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<p><b>OBJECTIVE</b>To investigate the expression pattern of human triggering receptor expressed on myeloid cells 1 (TREM-1) mRNA in peripheral blood mononuclear cells and its clinical significance in acute obstructive suppurative cholangitis (AOSC).</p><p><b>METHODS</b>Peripheral blood mononuclear cells were collected from 36 patients with AOSC and 40 healthy adults. TREM-1 mRNA was determined by semi-quantitative RT-PCR, and TREM-1 protein by immunocytochemistry. Enzyme-linked immunosorbent assay (TNF-alpha) was used to detect the level of tumor necrosis factor-alpha (TNF-alpha), and immunoturbidimetry employed to detect C reactive protein.</p><p><b>RESULTS</b>The expression of TREM-1 mRNA relative to beta-actin was 1.007-/+0.252 in patients with AOSC, significantly higher than that in the healthy adults (0.457-/+0.053, P<0.05). The two groups also showed significantly different TREM protein expression (P<0.01). The AOSC patients exhibited significantly higher levels of TNF-alpha and C reactive protein than the healthy adults (P<0.01).</p><p><b>CONCLUSION</b>The expression of human TREM-1 in peripheral blood mononuclear cells is up-regulated obviously in early stage of AOSC, probably suggesting an important role of TREM-1 in the development of AOSC.</p>